NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1003706636
rs1003706636 		1.000 0.120 1 247424639 missense variant T/C snv
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10159239
rs10159239 		0.882 0.040 1 247443750 intron variant G/A snv 0.57
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs10159239
rs10159239 		0.882 0.040 1 247443750 intron variant G/A snv 0.57
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs10159239
rs10159239 		0.882 0.040 1 247443750 intron variant G/A snv 0.57
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs10754557
rs10754557 		1.000 0.040 1 247435930 intron variant G/A snv 0.59 0.51
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0242231
Disease: Coronary Stenosis
Coronary Stenosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0702166
Disease: Acne
Acne 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0685898
Disease: Food anaphylaxis
Food anaphylaxis 		Digestive System Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2018 2018
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0020097
Disease: HTLV-I Infections
HTLV-I Infections 		Infections; Immune System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10802502
rs10802502 		1 247448993 3 prime UTR variant C/T snv 0.55
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs10925019
rs10925019 		0.925 0.040 1 247432548 intron variant C/T snv 0.11
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1204135596
rs1204135596 		1 247425398 missense variant A/G snv 4.0E-06
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs12048215
rs12048215 		0.882 0.160 1 247421289 intron variant A/G snv 0.11
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011